Multi-exon deletions of the FBN1 gene in Marfan syndrome
about
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceA Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection.A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.The clinical spectrum of complete FBN1 allele deletions.Marfan syndrome in the third Millennium.Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cellsQualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.The effect of losartan therapy on ventricular function in Marfan patients with haploinsufficient or dominant negative FBN1 mutationsGenotype impacts survival in Marfan syndrome.Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions.Exogenous activation of BMP-2 signaling overcomes TGFβ-mediated inhibition of osteogenesis in Marfan embryonic stem cells and Marfan patient-specific induced pluripotent stem cells.TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event.
P2860
Q24338242-B6237024-9814-448E-AB41-6175E05C3BC1Q26744537-0ADC4F54-0C87-4D23-9EB0-DEB933BCC105Q33298689-5DE251A9-F1BD-4314-A643-1ED7C30A76CFQ34026854-704E1440-84DD-4E60-A279-128EE2A914C6Q34705212-B0E93F56-6F62-4EDC-B2C9-0A30A4EA2A45Q34982429-532B9A41-7616-4DAE-B631-7ABFABE02566Q35657562-E2CD9EEA-4C2F-4BBC-BD17-D9D50404951DQ35873239-467F8DAC-FFB6-41DA-AADF-CC3FC1E6791AQ37217869-DE0FD861-A020-482A-B7D2-47BB4E38167CQ37341800-6C13A663-2A21-473E-BB6E-4B6F4C3B7646Q40085899-AD30FE5C-9D62-4F9B-9E1E-32DB913BBC3DQ41734139-4D587FA4-5929-46D4-9527-2CF6FD3EC408Q41876541-EC5CE719-9766-454F-94E6-C6E44B5DD7F5Q45125619-9A8BD211-CA6D-4EFD-BE7A-604F3EE9A21EQ47885926-42813E59-1FA2-4430-BB46-AB878A37FB0CQ49109205-1EE4D065-FF5B-416F-A354-C06A4B4BD6BB
P2860
Multi-exon deletions of the FBN1 gene in Marfan syndrome
description
2001 nî lūn-bûn
@nan
2001 թուականին հրատարակուած գիտական յօդուած
@hyw
2001 թվականին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Multi-exon deletions of the FBN1 gene in Marfan syndrome
@ast
Multi-exon deletions of the FBN1 gene in Marfan syndrome
@en
Multi-exon deletions of the FBN1 gene in Marfan syndrome
@nl
type
label
Multi-exon deletions of the FBN1 gene in Marfan syndrome
@ast
Multi-exon deletions of the FBN1 gene in Marfan syndrome
@en
Multi-exon deletions of the FBN1 gene in Marfan syndrome
@nl
prefLabel
Multi-exon deletions of the FBN1 gene in Marfan syndrome
@ast
Multi-exon deletions of the FBN1 gene in Marfan syndrome
@en
Multi-exon deletions of the FBN1 gene in Marfan syndrome
@nl
P2093
P2860
P3181
P356
P1433
P1476
Multi-exon deletions of the FBN1 gene in Marfan syndrome
@en
P2093
P2860
P2888
P3181
P356
10.1186/1471-2350-2-11
P407
P577
2001-01-01T00:00:00Z
P5875
P6179
1028946400